Journal of Neural Transmission

, Volume 116, Issue 10, pp 1289–1293

Mutational screening of the mortalin gene (HSPA9) in Parkinson’s disease

  • Lorena De Mena
  • Eliecer Coto
  • Elena Sánchez-Ferrero
  • René Ribacoba
  • Luis M. Guisasola
  • Carlos Salvador
  • Marta Blázquez
  • Victoria Alvarez
Movement Disorders - Short Communication

DOI: 10.1007/s00702-009-0273-2

Cite this article as:
De Mena, L., Coto, E., Sánchez-Ferrero, E. et al. J Neural Transm (2009) 116: 1289. doi:10.1007/s00702-009-0273-2

Abstract

Mortalin is a mitochondrial chaperone of the heat shock protein 70 family. Mortalin plays a central role in mitochondrial biogenesis through its capacity to direct the import of nuclear-encoded proteins into the mitochondria. As mitochondrial dysfunction has been involved in Parkinson’s disease (PD), changes in mortalin function and expression could manifest as a higher risk of developing PD. In agreement with this, mortalin expression was decreased in the mitochondrial fraction of neurons from the substantia nigra of PD patients. We hypothesised that DNA variants in the mortalin gene (HSPA9) could contribute to the risk of developing PD. We analysed the 17 HSPA9 coding exons in 330 PD patients and 250 controls. In addition to several polymorphisms, found in patients and controls, three variants were found in 3 patients but none of the controls: two missense (R126 > W and P509 > S) and a 17 bp insertion in intron 8 (predicted to affect RNA splicing). Our study suggests that putative mutations in the mortalin, although rare, could contribute to the risk of developing PD.

Keywords

Parkinson’s diseaseMortalinMutationsGenetic risk

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Lorena De Mena
    • 1
  • Eliecer Coto
    • 1
  • Elena Sánchez-Ferrero
    • 1
  • René Ribacoba
    • 2
  • Luis M. Guisasola
    • 2
  • Carlos Salvador
    • 2
  • Marta Blázquez
    • 2
  • Victoria Alvarez
    • 1
  1. 1.Genética MolecularHospital Central de Asturias-MaternidadOviedoSpain
  2. 2.NeurologíaHospitales Central Asturias and Alvarez Buylla-MieresAsturiasSpain